Canonical Allele Identifier: CA539837323

Gene: BARD1

Linked Data

• dbSNP Id: rs1289688090
• gnomAD v2: 2-215646236-G-GAAAA
• MyVariant Identifiers: chr2:g.215646236_215646237insAAAA (hg19) ; chr2:g.214781512_214781513insAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781513_214781514insAAAA , CM000664.2:g.214781513_214781514insAAAA	GRCh38
NC_000002.11:g.215646237_215646238insAAAA , CM000664.1:g.215646237_215646238insAAAA	GRCh37
NC_000002.10:g.215354482_215354483insAAAA	NCBI36
NG_012047.2:g.33192_33193insTTTT
NG_012047.3:g.33199_33200insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.365-4_365-3insTTTT MANE Select	ENSP00000260947.4:n.365-4_365-3insTTTT
ENST00000421162.2:c.215+15548_215+15549insTTTT	ENSP00000392245.2:n.215+15548_215+15549insTTTT
ENST00000613192.2:c.158+27899_158+27900insTTTT	ENSP00000483275.2:n.158+27899_158+27900insTTTT
ENST00000613374.5:c.158+27899_158+27900insTTTT	ENSP00000484464.1:n.158+27899_158+27900insTTTT
ENST00000613706.5:c.365-4_365-3insTTTT	ENSP00000484976.2:n.365-4_365-3insTTTT
ENST00000617164.5:c.308-4_308-3insTTTT	ENSP00000480470.1:n.308-4_308-3insTTTT
ENST00000619009.5:c.364+10784_364+10785insTTTT	ENSP00000482293.1:n.364+10784_364+10785insTTTT
ENST00000650978.1:c.207-4_207-3insTTTT
ENST00000260947.8:c.365-4_365-3insTTTT	ENSP00000260947.4:n.365-4_365-3insTTTT
ENST00000421162.1:c.215+15548_215+15549insTTTT	ENSP00000392245.1:n.215+15548_215+15549insTTTT
ENST00000455743.5:c.216-4_216-3insTTTT	ENSP00000412186.1:n.216-4_216-3insTTTT
ENST00000471787.1:n.260-4_260-3insTTTT
ENST00000613192.1:c.73+27899_73+27900insTTTT	ENSP00000483275.1:n.73+27899_73+27900insTTTT
ENST00000613374.4:c.158+27899_158+27900insTTTT	ENSP00000484464.1:n.158+27899_158+27900insTTTT
ENST00000613706.4:c.215+15548_215+15549insTTTT	ENSP00000484976.1:n.215+15548_215+15549insTTTT
ENST00000617164.4:c.308-4_308-3insTTTT	ENSP00000480470.1:n.308-4_308-3insTTTT
ENST00000619009.4:c.364+10784_364+10785insTTTT	ENSP00000482293.1:n.364+10784_364+10785insTTTT
ENST00000620057.4:c.364+10784_364+10785insTTTT	ENSP00000481988.1:n.364+10784_364+10785insTTTT
NM_000465.3:c.365-4_365-3insTTTT	NP_000456.2:n.365-4_365-3insTTTT
NM_001282543.1:c.308-4_308-3insTTTT	NP_001269472.1:n.308-4_308-3insTTTT
NM_001282545.1:c.215+15548_215+15549insTTTT	NP_001269474.1:n.215+15548_215+15549insTTTT
NM_001282548.1:c.158+27899_158+27900insTTTT	NP_001269477.1:n.158+27899_158+27900insTTTT
NM_001282549.1:c.364+10784_364+10785insTTTT	NP_001269478.1:n.364+10784_364+10785insTTTT
NR_104212.1:n.358-4_358-3insTTTT
NR_104215.1:n.301-4_301-3insTTTT
NR_104216.1:n.506+10784_506+10785insTTTT
XM_011511567.1:c.311-4_311-3insTTTT	XP_011509869.1:n.311-4_311-3insTTTT
XM_011511568.1:c.365-4_365-3insTTTT	XP_011509870.1:n.365-4_365-3insTTTT
XM_017004613.1:c.464-4_464-3insTTTT	XP_016860102.1:n.464-4_464-3insTTTT
XM_017004614.1:c.464-4_464-3insTTTT	XP_016860103.1:n.464-4_464-3insTTTT
XR_002959322.1:n.555-4_555-3insTTTT
NM_000465.4:c.365-4_365-3insTTTT MANE Select	NP_000456.2:n.365-4_365-3insTTTT
NM_001282543.2:c.308-4_308-3insTTTT	NP_001269472.1:n.308-4_308-3insTTTT
NM_001282545.2:c.215+15548_215+15549insTTTT	NP_001269474.1:n.215+15548_215+15549insTTTT
NM_001282548.2:c.158+27899_158+27900insTTTT	NP_001269477.1:n.158+27899_158+27900insTTTT
NM_001282549.2:c.364+10784_364+10785insTTTT	NP_001269478.1:n.364+10784_364+10785insTTTT
NR_104212.2:n.330-4_330-3insTTTT
NR_104215.2:n.273-4_273-3insTTTT
NR_104216.2:n.478+10784_478+10785insTTTT